CYP24A1
LOCUS ID1591
GENE_SYMBOLCYP24A1
GENE NAMEcytochrome P450, family 24, subfamily A, polypeptide 1
SYNONYMNSCP24, HCAI, CYP24, P450-CC24
CHROMOSOME20
HOMOLOGENE ID68094
microRNAsNANA
GENE SUMMARY
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygeses which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Altertively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. diabetes induces an increase in CYP24A1 expression, destabilizing vitamin D metabolism in the renal proximal tubules, leading to cellular instability and apoptosis, and thereby accelerating tubular injury progression during diabetic nephropathy.23119081